So it's been a CF kind of week. It's not always like this, despite how this blog must sound. Maybe it's a bit like reading a Jeremy Clarkson column in the Times every week..... You'd be forgiven for thinking that his only mode is angry ranting.... Actually, that might not be the best analogy, I think he probably is just an angry prick. Anyhow.... our lives are NOT all about CF - but this blog is, hence the dwelling on the subject somewhat. But fear not, we laugh, we dance, we sing (poorly), and mostly CF is very much the annoyance in the corner, like an unwanted house-mouse knawing through your cereal (we get those too).
But this week I've had a CF parents evening, followed by CF Clinic. The headlines are;
The Ataluren Trials continue. You may remember me blogging
here about this drug trial previously. I was heartbroken when we couldn't join the clinical trial because of one very good lung function result, meaning he was TOO WELL to participate (as predicted, never repeated, drrrr!!!). I've been watching the progress of this drug for many years, as it's the only small molecule drug in promising trials that would help Isaac, as he has two rare (class 1) mutations (Classes of mutations explained better
here). The results so far have not been outstanding, but as these drugs treat the underlying cause of CF (rather than its symptoms) the full efficacy may not be fully known for many years. The other funny thing about Ataluren (as opposed to the more well known small molecule drugs Kalydeco and Orkambi, which will treat the majority of people with CF with more common gene mutations) is that this drug is suitable for other genetic diseases, specifically for 'Stop (or nonsense) Mutations', which includes Duchennes Muscular Dystrophy. Ataluren has recently been approved for use in DMD for children up to the point where they are wheel chair bound. I have no idea why treatment stops there. This is a limited time (as I understand it) and the cost is circa £220K per annum, per patient. Yep. Really. The question is, if approved for use in CF, would the cost be lowered as the time frame would be longer for each patient? The problem is always the same;
The investment cost for the pharmaceutical company + the small number of patients who require the treatment = a high cost drug.
Unless the number of patients is very very small, and the efficacy high, in which case the overall cost is manageable. I wonder if the problem with CF is that it's pretty rare (1 in 2500 live births, 10K pop in the UK) but not so rare that it doesn't add up for the big pharma's. Orkambi was recently refused by NICE at a cost of £104K pp pa. Heartbreaking for some who have high hopes for this drug.
I did though catch up with some other lovely CF parents, and our amazing team (can't tell you how much I love the Addenbrookes CF Team) and there was good news about the Adult CF Centre Isaac will attend. We've known since he was small that Papworth hospital (local adult CF centre) would eventually move to the Addenbrookes site, which is perfect for us; access to everything he might need on one site, which we live 20 minutes from (how lucky are we?!) and we have a date now; Spring 2018. His transition to adult care will be from 14-16 years old, so not that far off, and the new purpose built CF Ward will have private rooms, ensuites, and fitness facilities in each room. If you read this blog or know CF at all, you'll know why all of those are so important, these are not perks, but essentials due to cross infection, and exercise being so important to lung health.
Then clinic... Lung function was down, again, so we're starting some more antibiotics (oral) to try and set him up for a better winter. His chest is not yet bothering him, so good to do this now before it does.
Tummy wise, we are trialling him off one of his 5 tummy related drugs to see what difference this makes. He is still not right, but we're talking about many, sometimes conflicting, factors here; DIOS (blockages), side effects for all the drugs he takes for this, and his pancreatic enzymes (Creon, or specifically, lack of). Knowing where one starts and another ends is pretty hard to figure out!
He is learning the hard way about not taking his Creon properly (we suspect he has been skipping it at school, as he dislikes taking them in front of people) and will try out a new Creon dose which means instead of taking 10 capsules, he can take 4 larger ones, which he can do more discreetly and see if that helps.
It's been a long day, but we got to see one of our favourite nurses before she retired. Thank you Fiona.... We will miss your friendly face more than you can know.
Clinic is a weirdly bonding time for Isaac and I. We always make it fun and have some pretty deep chats (usually followed by pranks and giggles). He then came home and threw up all over the rug. It's hard not to feel that it's a bit bloody unfair at times, he deserves a break, surely? But he doesn't complain, and I couldn't love him more.
We had letters from school about forthcoming school trips he can go on, which for us create two issues, one being the cost (£1000 together, EEEEK!) and the other being, can/could he start to manage his own treatments for a week to travel without us? I have to see the school regarding travel insurance too. We refuse to let CF hold him back in any way, so we have to make this work somehow.
Have a great day x
Updated Friday to say; Today we celebrated because I found out I have passed some recent exams (Professional qualifications)! Took the kids out to eat and be merry. Isaac is tired but feeling better 😊
